Ataxia and Parkinsonism in a Woman With a VCP Variant and Long-Normal Repeats in the SCA2 Allele.

Abstract

We present the case of a 46-year-old woman with gradually progressive ataxia, parkinsonism, and neuropathy. Symptoms started at age 29 years with speech impairment and difficulty walking. At presentation, she had mild midline ataxia and dysarthria. Left hand rest tremor began at age 33 years. Over the next decade, she developed parkinsonism and lower extremity weakness, which was more prominent than ataxia (Videos 1 and 2 ). Her parkinsonism was responsive to levodopa, and over time, she developed motor fluctuations. She also developed urinary retention and constipation. Medical history was otherwise notable for lumbar radiculopathy, ankylosing spondylitis, elevated anti-nuclear antibodies, migraine, and depression. Current examination reveals appendicular and gait ataxia, dysarthria, parkinsonism (left predominant), bilateral hip flexor weakness and foot drop, length-dependent decrease in pinprick sensation, and hyperreflexia (bilateral Babinski and jaw jerk reflexes). She is adopted and has 2 healthy teenaged sons. She is apparently of European descent but does not know her family history. The authors thank Christopher Gomez, MD, PhD (University of Chicago, IL), for providing ataxia exome and RFC-1 expansion data and discussing the case.